Primary ciliary dyskinesia diagnostic study of choice: Difference between revisions
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==Overview== | ==Overview== | ||
A high level of suspicion is required to warrant early diagnosis and initiation of appropriate management before irreversible lung damage ensues. Diagnostic investigations are complex, requiring expensive arrangements and an experienced team of clinicians and scientists. People with persistent respiratory symptoms such as [[rhinitis]], [[Rhinosinusitis|rhino-sinusitis]], [[infertility]], recurren[[Otitis media|t otitis media]] should seek medical care and undergo further testing. Nasal [[nitric oxide]] levels are low in PCD and should be performed as a [[screening test]]. [[Transmission electron microscopy]] to assess the [[ultrastructure]] of [[cilia]] is another important investigation that can confirm the diagnosis. | |||
==Diagnostic Study of Choice== | ==Diagnostic Study of Choice== | ||
===Study of choice=== | ===Study of choice=== | ||
There is no single diagnostic test for | There is no single diagnostic test for primary ciliary dyskinesia. A combination of the following techniques could contribute to the [[diagnosis]] of Primary ciliary dyskinesia.<ref name="pmid24771309">{{cite journal| author=Lucas JS, Burgess A, Mitchison HM, Moya E, Williamson M, Hogg C | display-authors=etal| title=Diagnosis and management of primary ciliary dyskinesia. | journal=Arch Dis Child | year= 2014 | volume= 99 | issue= 9 | pages= 850-6 | pmid=24771309 | doi=10.1136/archdischild-2013-304831 | pmc=4145427 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24771309 }} </ref> | ||
*Nasal [[nitric oxide]] test (nNo) | *Nasal [[nitric oxide]] test (nNo) | ||
*Assessment of ciliary ultrastructure by Transmission Electron Microscopy(TEM), [[Gold standard (test)|Gold standard]]. | *Assessment of ciliary ultrastructure by Transmission Electron Microscopy(TEM), [[Gold standard (test)|Gold standard]]. | ||
*Ciliary beat frequency CBF and Ciliary beat pattern CBP. | *Ciliary beat frequency CBF and Ciliary beat pattern CBP. | ||
*Radio-aerosol MCC | *Radio-aerosol MCC | ||
*Direct video cinematography or oscillography to analyse ciliary beat waveform. | |||
*Bronchial [[Biopsy|ciliary biopsy]].<ref>{{cite web |url=https://emedicine.medscape.com/article/1002319-workup#c7 |title=Primary Ciliary Dyskinesia Workup: Laboratory Studies, Imaging Studies, Other Tests |format= |work= |accessdate=}}</ref> | |||
*[[Electron microscopy]] [[Tomography|Tomography.]] | *[[Electron microscopy]] [[Tomography|Tomography.]] | ||
*[[Semen analysis]]. | |||
* | |||
=====Sequence of Diagnostic Studies===== | =====Sequence of Diagnostic Studies===== | ||
[[Electron microscopy]] should be performed when standard microscopy fails to establish the diagnosis. Repeat testing is often required as most | [[Electron microscopy]] should be performed when standard microscopy fails to establish the diagnosis. Repeat testing is often required as most tests are inconclusive. | ||
===Name of Diagnostic Criteria=== | ===Name of Diagnostic Criteria=== | ||
Candidates presenting with any of the following should be tested to rule out PCD, | |||
*[[Situs inversus]] with [[respiratory]] or [[nasal]] symptoms | |||
*[[Neonates]] born with [[respiratory distress]] of unknown origin | |||
*A Sibling with primary ciliary dyskinesia (PCD ) or a daily life-long wet cough | |||
*If suspecting [[cystic fibrosis]], also discuss testing for PCD especially if [[rhinitis]], [[Sinusitis|sinusitis,]] or glue ear symptoms are present. | |||
*[[Bronchiectasis]] of unknown [[Etiology|etiology.]] | |||
*Serous [[otitis media]] in association with upper and lower respiratory disease. | |||
*[[Cardiac disease]] associated with heterotaxy. | |||
==References== | ==References== | ||
Latest revision as of 12:51, 23 September 2021
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Hafsa Ghaffar, M.B.B.S[2]
Overview
A high level of suspicion is required to warrant early diagnosis and initiation of appropriate management before irreversible lung damage ensues. Diagnostic investigations are complex, requiring expensive arrangements and an experienced team of clinicians and scientists. People with persistent respiratory symptoms such as rhinitis, rhino-sinusitis, infertility, recurrent otitis media should seek medical care and undergo further testing. Nasal nitric oxide levels are low in PCD and should be performed as a screening test. Transmission electron microscopy to assess the ultrastructure of cilia is another important investigation that can confirm the diagnosis.
Diagnostic Study of Choice
Study of choice
There is no single diagnostic test for primary ciliary dyskinesia. A combination of the following techniques could contribute to the diagnosis of Primary ciliary dyskinesia.[1]
- Nasal nitric oxide test (nNo)
- Assessment of ciliary ultrastructure by Transmission Electron Microscopy(TEM), Gold standard.
- Ciliary beat frequency CBF and Ciliary beat pattern CBP.
- Radio-aerosol MCC
- Direct video cinematography or oscillography to analyse ciliary beat waveform.
- Bronchial ciliary biopsy.[2]
- Electron microscopy Tomography.
- Semen analysis.
Sequence of Diagnostic Studies
Electron microscopy should be performed when standard microscopy fails to establish the diagnosis. Repeat testing is often required as most tests are inconclusive.
Name of Diagnostic Criteria
Candidates presenting with any of the following should be tested to rule out PCD,
- Situs inversus with respiratory or nasal symptoms
- Neonates born with respiratory distress of unknown origin
- A Sibling with primary ciliary dyskinesia (PCD ) or a daily life-long wet cough
- If suspecting cystic fibrosis, also discuss testing for PCD especially if rhinitis, sinusitis, or glue ear symptoms are present.
- Bronchiectasis of unknown etiology.
- Serous otitis media in association with upper and lower respiratory disease.
- Cardiac disease associated with heterotaxy.
References
- ↑ Lucas JS, Burgess A, Mitchison HM, Moya E, Williamson M, Hogg C; et al. (2014). "Diagnosis and management of primary ciliary dyskinesia". Arch Dis Child. 99 (9): 850–6. doi:10.1136/archdischild-2013-304831. PMC 4145427. PMID 24771309.
- ↑ "Primary Ciliary Dyskinesia Workup: Laboratory Studies, Imaging Studies, Other Tests".